Autism is currently one of five disorders that fall under the umbrella of Pervasive Developmental Disorders (PDD), a category of neurological disorders characterized by severe and pervasive impairment in several areas of development. Autism is a complex developmental disability that typically appears during the first two years of life and affects the functioning of the brain, impacting development of social interaction and communication skills. Both children and adults on the autism spectrum typically show difficulties in verbal and non-verbal communication, social interactions, and leisure or play activities. Autism knows no racial, ethnic, or social boundaries, and can affect any family and any child.
Autism statistics from the U.S. Centers for Disease Control and Prevention (CDC) identify around 1 in 88 American children as on the autism spectrum—a ten-fold increase in prevalence in 40 years. Careful research shows that this increase is only partly explained by improved diagnosis and awareness. Studies also show that autism is four to five times more common among boys than girls. An estimated 1 out of 54 boys and 1 in 252 girls are diagnosed with autism in the United States.
Despite progress in genetic research in autism spectrum disorders (ASD), direct treatment of underlying abnormal cellular mechanisms in ASD is not yet possible. Genetic associations correlate with at most only ˜20% of ASD patients. This indicates considerable clinical heterogeneity, which likely results from multiple cellular mechanisms. Several clinical and laboratory findings in ASD indicate that different types of cellular dysfunction, including neuro-inflammation (Vargas et al., 2005), oxidative stress (James et al., 2009), and mitochondrial abnormalities (Weissman et al., 2008), and abnormal synaptic plasticity and connectivity (Weng et al., 2010), involve a number of related, interacting metabolic pathways.
The medications and treatments currently used to treat autism and autism spectrum disorders are symptomatic; there is no evidence that these medications either improve core features (e.g., social responsiveness) or affect the neurodevelopmental trajectory. Thus, despite intensive efforts, no effective methods for treatment or prevention of autism are available.
What is needed is a mechanism-based strategy that targets the intrinsic cellular stress response and modulates the metabolic defects that contribute to the symptomatology of autism and autism spectrum disorders.